Defective OPLAH does not hydrolyse OPRO

Stable Identifier
R-HSA-5603208
Type
Reaction [transition]
Species
Homo sapiens
Compartment
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The gamma-glutamyl cycle is a six-enzyme cycle that represents the primary pathway for glutathione synthesis and degradation. One step is the cleavage of 5-oxo-L-proline (OPRO) to form L-glutamate, coupled to the hydrolysis of ATP. This is catalysed by 5-oxoprolinase (OPLAH) is a homodimeric, cytosolic protein. Defects in OPLAH can cause 5-oxoprolinase deficiency (OPLAHD; MIM:260005), an extremely rare disorder of the gamma-glutamyl cycle about which debate continues as to whether it is a disorder or just a biochemical condition with no adverse clinical effects apart from 5-oxoprolinuria. Mutations that can cause OPLAHD are S323R, V1089I and H870Pfs*92 (Calpena et al. 2013, Almaghlouth et al. 2012).

Literature References
PubMed ID Title Journal Year
21651516 5-Oxoprolinase deficiency: report of the first human OPLAH mutation

Almaghlouth, IA, Mohamed, JY, Al-Amoudi, M, Al-Ahaidib, L, Al-Odaib, A, Alkuraya, FS

Clin. Genet. 2012
23430506 5-Oxoprolinuria in Heterozygous Patients for 5-Oxoprolinase (OPLAH) Missense Changes

Calpena, E, Casado, M, Martínez-Rubio, D, Nascimento, A, Colomer, J, Gargallo, E, Garcia-Cazorla, A, Palau, F, Artuch, R, Espinós, C

JIMD Rep 2013
Participants
Participant Of
Catalyst Activity
Catalyst Activity
Title
5-oxoprolinase (ATP-hydrolyzing) activity of OPLAH mutants [cytosol]
Physical Entity
Activity
Normal reaction
Disease
Name Identifier Synonyms
inherited metabolic disorder 655 Metabolic hereditary disorder, Inborn Errors of Metabolism, inborn metabolism disorder
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